Variant report

Variant	rs1994443
Chromosome Location	chr8:89969412-89969413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10095833	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102990	1.00[ASN][1000 genomes]
rs10109745	0.86[ASN][1000 genomes]
rs10283336	1.00[ASN][1000 genomes]
rs1843977	0.91[AFR][1000 genomes]
rs2200642	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28580081	0.89[ASN][1000 genomes]
rs6980555	0.92[ASN][1000 genomes]
rs6981959	0.89[ASN][1000 genomes]
rs6986236	1.00[CHB][hapmap]
rs7386824	0.89[ASN][1000 genomes]
rs7812413	1.00[ASN][1000 genomes]
rs7832907	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891173	chr8:89509223-89996790	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1023176	chr8:89707267-90154549	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1015363	chr8:89707267-90158090	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1022619	chr8:89709240-90137813	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1032038	chr8:89735634-90068849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv831387	chr8:89804194-90011110	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1021097	chr8:89808660-90024709	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2752269	chr8:89887658-89974384	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv831388	chr8:89892722-90050937	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv611716	chr8:89909462-90003188	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1031054	chr8:89922522-90102748	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1016268	chr8:89927580-90104483	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv539670	chr8:89927580-90104483	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv891177	chr8:89941889-90166429	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89967400-89975400	Enhancers	Hela-S3	cervix
2	chr8:89967600-89969800	Weak transcription	NH-A	brain
3	chr8:89968000-89972200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:89969200-89969600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:89969200-89969600	Enhancers	HMEC	breast
6	chr8:89969200-89969600	Enhancers	Osteobl	bone
7	chr8:89969200-89970600	Flanking Active TSS	Dnd41	blood
8	chr8:89969200-89972800	Enhancers	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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